ESPE Abstracts

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Objective: To describe efficacy and security of treatment protocol with gonadotropins in adolescents with hypogonadotropic hypogonadism (HH).Methods: Prospective study of patients with HH who received hGH and rhFSH in puberty. HH diagnosed during first months of life or in adolescence (testicular volume<4cc in >16 year-old with FSH<1.2UI/L, testosterone<40ng/dL and GnRH-test with LH-peak<6UI/L)<p class...

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

Management of type 1 diabetes in preschool children is a huge challenge for their caregivers. Age-specific factors (e.g. unpredictable food intake and physical activity, small insulin doses, high insulin sensitivity, frequent intercurrent infections, high variability in insulin requirements) increase the complexity of daily diabetes management. Furthermore, the preschool child depends completely on his/her caregiver. To meet recommended treatment targets while avoiding hypogly...

I review the mental health difficulties that transgender and gender diverse children and adolescents may present with, specifically emotional difficulties. Many studies reveal depression scores and parent and self-reported measures of emotional and behavioral problems that are comparable to mental health clinic referred populations. Children and adolescents who feel that they are acknowledged and supported in their gender diverse feelings, e.g. by receiving gender affirming me...

The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Cardinal features of TS include reduced final height and infertility. Apart from endocrine, renal and neurocognitive disorders, structural heart defects are frequently present (in 25% to 50%), also in TS patients with mosaicism 45,X/46,XY. Males with 45,X/46,XY frequently show stigmata typically associated with TS but data on cardiovascular patholog...

Central precocious puberty (CPP) may have endocrine and metabolic implications in adulthood. Long-term effects may be associated with the underlying neuroendocrine dysfunction leading to CPP, the GnRH analogue (GnRHa) therapy, or both. Data are conflicting on the long-term risk of polycystic ovarian syndrome in both treated and untreated women. Clinical hyperandrogenism has been more frequently reported in CPP women than in controls, with no significant difference between GnRH...

Anthropometrics is an important part of pediatrics and public health. Its non-invasiveness, simplicity and low cost makes anthropometry attractive for several purposes. It is a valuable method for the screening or assessment of growth disorders, as well as under- and over-nutrition. Furthermore, specific anthropometric measures can be used as indicators of general fitness or cardiovascular risk factors (insulin resistance and dyslipidemia) in (obese) children, as well as marke...

Puberty is defined by the appearance of secondary sexual characteristics and the maturation of reproductive function. It is driven by an increase in sexual steroid hormone synthesis under the control of the gonadotropic axis. The key event in puberty initiation is an increase in the pulsatile release of the GnRH by hypothalamic neurons, triggering the release of LH and FSH. This pubertal increase in GnRH secretion is associated with increases in glutamatergic inputs and decrea...

Patients with type 1 diabetes (T1D) and their caregivers continue to face the challenge of maintaining blood glucose levels in the near-normal range, preventing sustained hyperglycemia associated with long-term microvascular and macrovascular complications, and avoiding recurrent episodes of hypoglycemia, especially at young ages when they can adversely affect cognitive function. In a follow-up to the Diabetes Control and Complications Trial, the Epidemiology of Diabetes Inter...